1187212004: Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\...

\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\General finding of soft tissue\Poor muscle tone\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Disorder of head\Disorder of eye region\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disorder of head\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Eye / vision finding\Visual system disorder\...

\Disorder of eye region\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Hereditary disorder of the visual system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Disorder of eye movements\Strabismus\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Muscle finding\Muscle tone - finding\Poor muscle tone\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Muscle finding\Muscle tone - finding\Decreased muscle tone\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Musculoskeletal finding\Poor muscle tone\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of head\Disorder of eye region\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Congenital septal defect of heart\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
\Disease\Developmental disorder\Developmental delay\Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4672737014 Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4672738016 Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome en Synonym Active Case insensitive SNOMED CT core

4672739012 A rare genetic non-dystrophic congenital myopathy disorder characterized by neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. en Definition Active Case sensitive SNOMED CT core

4672740014 A rare genetic non-dystrophic congenital myopathy disorder characterised by neonatal-onset of severe generalised hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fibre size. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Developmental delay	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Poor muscle tone	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Congenital septal defect of heart	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Congenital strabismus	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Interprets	Muscle tone	true	Inferred relationship	Some	4
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Finding site	Eye region structure	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Finding site	Cardiac septum structure	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Associated morphology	Defect	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Is a	Decreased muscle tone	true	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4672737014	Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4672738016	Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4672739012	A rare genetic non-dystrophic congenital myopathy disorder characterized by neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	en	Definition	Active	Case sensitive	SNOMED CT core
4672740014	A rare genetic non-dystrophic congenital myopathy disorder characterised by neonatal-onset of severe generalised hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fibre size.	en	Definition	Active	Case sensitive	SNOMED CT core